Porphyria Specialist

What is Porphyria?

Porphyria refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body defined by mayoclinic.org. Porphyrins link hemoglobin to your red blood cells, which bind iron and transport oxygen to your various tissues. This condition is typically inherited from one or both parents, although environmental factors can also be a factor in some types of porphyria. The condition most often affects the skin or nervous system, although other organs can also be affected. If you have signs of porphyria, contact us to schedule a consultation with Dr. Tabib today.

Symptoms

There are two types of porphyria, acute and cutaneous. Acute varieties affect the nervous system, while cutaneous porphyrias affect the skin. Some varieties affect both, while others affect one more than the other.

Causes

In addition to hereditary factors, this condition may be triggered by certain environmental factors. These can include barbiturates, tranquilizers, birth control pills, sedatives, chemicals, fasting, smoking, drinking alcohol, emotion or physical stress, infections, menstrual hormones, and sun exposure. However, many people who inherit the genetic defect associated with the condition never develop symptoms and require no treatment.

Diagnosis

Diagnosis can be difficult. It is a rare condition, and its symptoms are often shared with other diseases. Dr. Tabib can test for the presence of porphyria using laboratory tests. These may include the use of blood samples, urine samples, or stool samples. Genetic testing may be recommended for your family members if you are diagnosed with porphyria.

Treatment

Porphyria treatments are about controlling symptoms and vary depending on whether your condition is acute or cutaneous. However, minimizing exposure to potential triggers is recommended in both cases. That may include stopping medications that trigger symptoms or avoiding exposure to sunlight. In patients with cutaneous porphyria who need to avoid the sun, vitamin D supplements may be recommended to compensate.

Other treatments for cutaneous porphyria include the drawing of blood to reduce excess hemoglobin, the use of malaria drugs to absorb porphyrins, and prescription beta carotene, which can boost your skin’s tolerance to sunlight.

Patients with acute porphyria often benefit from medications that control pain, nausea, and vomiting. Intravenous sugar may be essential to maintain adequate carbohydrate levels, as well as intravenous fluids to maintain hydration. Some patients also benefit from injections of hemin, a substance that limits the body’s production of porphyrin.

Today, gastroenterology conditions can be treated effectively. We provide everyone a personalized gastroenterology treatment plan to meet your unique needs and improve your quality of life. Contact our gastroenterology and hepatology center to schedule a consolation with Los Angeles’ preferred Gastroenterologist– Dr. Tabib.

Dr. Tabib’s completed his postgraduate fellowship, residency, and internships at the UCLA/Cedar-Sinai Medical Center.